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Factor V Leiden

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In one line

·Factor V Leiden is a genetic mutation that makes factor V resistant to protein C degradation, shifting the coagulation balance toward clot formation.

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Normal physiology

·The coagulation system is a cascade of proteins in the blood that work together to form clots and stop bleeding when blood vessels are injured. Factor V is a helper protein (cofactor) that speeds up the conversion of prothrombin to thrombin, the enzyme that turns fibrinogen into fibrin strands that form a clot. Protein C, activated by thrombin, acts as a natural brake by cutting and inactivating factor V and factor VIII to prevent excessive clotting. This balance between clot formation and clot regulation keeps blood flowing smoothly while allowing rapid clotting when needed.

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What goes wrong

·In Factor V Leiden, a single letter change in the DNA (nucleotide 1691 changes from G to A) creates a factor V protein with the wrong amino acid at position 506 (arginine becomes glutamine). Protein C normally cuts factor V at that exact spot to turn it off. When arginine is replaced with glutamine, protein C cannot recognize or cut the protein, so factor V stays active much longer than it should and keeps pushing clot formation forward.

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Hallmark signs

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Red flags · escalate now

·Sudden shortness of breath with chest pain suggests pulmonary embolism (a clot lodging in a lung artery) requiring emergent CT angiography
·Leg swelling with warmth and cord-like vein needs urgent ultrasound for a clot in a deep leg vein (deep vein thrombosis)
·Family history of multiple clots before age 50 indicates high-risk thrombophilia requiring testing
·Clot in unusual site (hepatic vein, cerebral sinus) suggests severe combined thrombophilia needing hematology consultation

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Workup

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Treatment

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NCLEX trap

·Factor V Leiden is a clotting disorder, not a bleeding disorder. It makes blood clot too easily. Anticoagulants are the main treatment after a clot occurs.
·Only patients who have already had a clot typically need long-term anticoagulation. Patients without prior clots use prevention strategies and short-term anticoagulation during high-risk periods like surgery or pregnancy.
·Aspirin prevents arterial clots (heart attacks, strokes) but does not adequately prevent venous clots (DVT, PE). Heparin or low-molecular-weight heparin is used for venous clot prevention in Factor V Leiden.
·Both men and women inherit and carry Factor V Leiden. Women face higher clot risk during pregnancy and with estrogen-containing birth control, but men with Factor V Leiden also develop clots, especially with other risk factors.
·With an acute DVT, initial bed rest for 24-48 hours with leg elevation reduces risk of clot breaking off and traveling to lungs. Early ambulation is encouraged only after anticoagulation is therapeutic (at effective levels).
·Only patients on warfarin need consistent (not eliminated) vitamin K intake because warfarin works by blocking vitamin K. Patients on newer anticoagulants like rivaroxaban or apixaban have no dietary restrictions.

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